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1.

Medullary cystic kidney disease 2

Autosomal dominant tubulointerstitial kidney disease caused by UMOD pathogenic variants (ADTKD-UMOD) was previously known as familial juvenile hyperuricemic nephropathy type 1 (FJHN1), medullary cystic kidney disease type 2 (MCKD2), and UMOD-associated kidney disease (or uromodulin-associated kidney disease). Typical clinical findings: Urinalysis revealing minimal protein and no blood. Slowly progressive chronic kidney failure, usually first noted in the teen years and progressing to end-stage renal disease (ESRD) between the fourth and seventh decades (Age at ESRD varies among and within families.) Hyperuricemia and gout (resulting from reduced kidney excretion of uric acid) that occurs as early as the teenage years. [from GTR]

MedGen UID:
349081
Concept ID:
C1859040
Disease or Syndrome
2.

Renal cyst

A fluid filled sac in the kidney. [from HPO]

MedGen UID:
7215
Concept ID:
C0022679
Disease or Syndrome
3.

Nephropathy

A nonspecific term referring to disease or damage of the kidneys. [from HPO]

MedGen UID:
898017
Concept ID:
C1408258
Finding
4.

Cystic disease of kidney

A congenital or acquired kidney disorder characterized by the presence of renal cysts. [from NCI]

MedGen UID:
352142
Concept ID:
C1691228
Disease or Syndrome
5.

Progressive hereditary glomerulonephritis without deafness

MedGen UID:
98012
Concept ID:
C0403443
Disease or Syndrome
6.

Abnormality of the kidney

An abnormality of the kidney. [from HPO]

MedGen UID:
78593
Concept ID:
C0266292
Congenital Abnormality
7.

Familial juvenile gout

Autosomal dominant tubulointerstitial kidney disease caused by UMOD pathogenic variants (ADTKD-UMOD) was previously known as familial juvenile hyperuricemic nephropathy type 1 (FJHN1), medullary cystic kidney disease type 2 (MCKD2), and UMOD-associated kidney disease (or uromodulin-associated kidney disease). Typical clinical findings: Urinalysis revealing minimal protein and no blood. Slowly progressive chronic kidney failure, usually first noted in the teen years and progressing to end-stage renal disease (ESRD) between the fourth and seventh decades (Age at ESRD varies among and within families.) Hyperuricemia and gout (resulting from reduced kidney excretion of uric acid) that occurs as early as the teenage years. [from GTR]

MedGen UID:
75651
Concept ID:
C0268113
Disease or Syndrome
8.

Nephropathy

A nonspecific term referring to disease or damage of the kidneys. [from HPO]

MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
9.

Uromucoid protein

A glycosyl-phosphatidyl-inositol (GPI) - anchored membrane protein found on the thick ascending limb of the LOOP OF HENLE. The cleaved form of the protein is found abundantly in URINE. [from MeSH]

MedGen UID:
82580
Concept ID:
C0077918
Amino Acid, Peptide, or Protein; Pharmacologic Substance
10.

Gout

A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals. [from NCI]

MedGen UID:
42280
Concept ID:
C0018099
Disease or Syndrome
11.

Polyuria

An increased rate of urine production. [from HPO]

MedGen UID:
19404
Concept ID:
C0032617
Sign or Symptom
12.

Diagnosis

The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. [from MeSH]

MedGen UID:
8354
Concept ID:
C0011900
Finding
13.

Genetic Linkage

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. [from MeSH]

MedGen UID:
6102
Concept ID:
C0023745
Molecular Function
14.

Juvenile onset

Onset of signs or symptoms of disease between the age of 5 and 15 years. [from HPO]

MedGen UID:
871119
Concept ID:
C4025588
Temporal Concept
15.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
16.

Gout

Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. [from HPO]

MedGen UID:
505046
Concept ID:
CN001808
Finding
17.

Juvenile onset

MedGen UID:
461003
Concept ID:
C3149653
18.

Renal insufficiency

A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. [from HPO]

MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
19.

Glycoprotein, renal

MedGen UID:
330713
Concept ID:
C1841864
Finding
20.

Renal insufficiency

A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. [from HPO]

MedGen UID:
326535
Concept ID:
C1839604
Finding
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